Reviewed, UniProtKB/Swiss-Prot Q13686 (ALKB1_HUMAN)

Names and origin

Protein names

Recommended name:
    Alkylated DNA repair protein alkB homolog 1

Gene names

Name:	ALKBH1
Synonyms:	ABH, ALKBH

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	389 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May have a role in placental trophoblast lineage differentiation By similarity.
Subunit structure	Interacts with DNAJB6 By similarity.
Subcellular location	Nucleus By similarity. Note: Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli By similarity.
Tissue specificity	Ubiquitous.
Sequence similarities	Belongs to the alkB family.
Sequence caution	The sequence CAA63047.1 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	DNA dealkylation Ref.1 Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 389	389	Alkylated DNA repair protein alkB homolog 1		PRO_0000066668
Natural variations
	Natural variant	135	1	M → I: dbSNP rs17825440.		VAR_048221
	Natural variant	324	1	M → L: dbSNP rs6494.		VAR_048222
Experimental info
	Sequence conflict	133	1	K → T in CAA63047. Ref.1
	Sequence conflict	266 – 267	2	TA → PP in CAA63047. Ref.1
	Sequence conflict	388	1	D → H in AAH25787. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q13686-1 [UniParc]. Last modified December 1, 2000. Version 2. Checksum: 539C4CE41D2D8AEC	FASTA	389	43,832
	10 20 30 40 50 60 MGKMAAAVGS VATLATEPGE DAFRKLFRFY RQSRPGTADL EGVIDFSAAH AARGKGPGAQ 70 80 90 100 110 120 KVIKSQLNVS SVSEQNAYRA GLQPVSKWQA YGLKGYPGFI FIPNPFLPGY QWHWVKQCLK 130 140 150 160 170 180 LYSQKPNVCN LDKHMSKEET QDLWEQSKEF LRYKEATKRR PRSLLEKLRW VTVGYHYNWD 190 200 210 220 230 240 SKKYSADHYT PFPSDLGFLS EQVAAACGFE DFRAEAGILN YYRLDSTLGI HVDRSELDHS 250 260 270 280 290 300 KPLLSFSFGQ SAIFLLGGLQ RDEAPTAMFM HSGDIMIMSG FSRLLNHAVP RVLPNPEGEG 310 320 330 340 350 360 LPHCLEAPLP AVLPRDSMVE PCSMEDWQVC ASYLKTARVN MTVRQVLATD QNFPLEPIED 370 380 EKRDISTEGF CHLDDQNSEV KRARINPDS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and functional analysis of a human cDNA encoding an Escherichia coli AlkB homolog, a protein involved in DNA alkylation damage repair." Wei Y.F., Carter K.C., Wang R.P., Shell B.K. Nucleic Acids Res. 24:931-937(1996) [PubMed: 8600462] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Synovial sarcoma.
[2]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed: 12508121] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Pancreas.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	X91992 mRNA. Translation: CAA63047.1. Frameshift. AC008044 Genomic DNA. Translation: AAF01478.1. BC025787 mRNA. Translation: AAH25787.1.
IPI	IPI00014482.
PIR	S64736.
RefSeq	NP_006011.2.
UniGene	Hs.94542
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q13686.
Proteomic databases
PRIDE	Q13686.
Genome annotation databases
Ensembl	ENST00000216489; ENSP00000216489; ENSG00000100601; Homo sapiens. [Genome view]
GeneID	8846.
KEGG	hsa:8846.
NMPDR	fig|9606.3.peg.9945.
UCSC	uc001xuc.1. human.
Organism-specific databases
CTD	8846.
GeneCards	GC14M077208.
HGNC	HGNC:17911. ALKBH1.
MIM	605345. gene.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q13686.
HOVERGEN	Q13686.
OMA	HYNWDSK
OrthoDB	EOG96DPNG
Gene expression databases
ArrayExpress	Q13686.
Bgee	Q13686.
CleanEx	HS_ALKBH1.
Genevestigator	Q13686.
GermOnline	ENSG00000100601. Homo sapiens.
Family and domain databases
InterPro	IPR004574. Alkb. [Graphical view]
TIGRFAMs	TIGR00568. alkb. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	33208.
SOURCE	Search...

Entry information

Entry name

ALKB1_HUMAN

Accession

Primary (citable) accession number: Q13686
Secondary accession number(s): Q8TAU1, Q9ULA7

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	December 1, 2000
Last modified:	November 24, 2009
This is version 79 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.